-
2
-
-
0026022146
-
Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency
-
Aramaki S, Lehotay D, Sweetman L, Nyhan WL, Winter SC, Middleton B (1991) Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency. J Inherit Metab Dis 14: 63-74.
-
(1991)
J. Inherit. Metab. Dis.
, vol.14
, pp. 63-74
-
-
Aramaki, S.1
Lehotay, D.2
Sweetman, L.3
Nyhan, W.L.4
Winter, S.C.5
Middleton, B.6
-
3
-
-
0027255176
-
Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: Possible metabolic markers for the primary defect
-
Bennett MJ, Sherwood WG, Gibson K, Burlina AB (1993) Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: Possible metabolic markers for the primary defect. J Inherit Metab Dis 16: 560-562.
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 560-562
-
-
Bennett, M.J.1
Sherwood, W.G.2
Gibson, K.3
Burlina, A.B.4
-
4
-
-
0031771022
-
Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism
-
Burlina AB, Gibson KM, Ruitenbeek W, Bonafe L, Bennett MJ (1998) Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism. J Inherit Metab Dis 21: 864-866.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 864-866
-
-
Burlina, A.B.1
Gibson, K.M.2
Ruitenbeek, W.3
Bonafe, L.4
Bennett, M.J.5
-
6
-
-
0029998238
-
Differential inhibitory action of nitric oxide and peroxynitrite on mitochondrial electron transport
-
Cassina A, Radi R (1996) Differential inhibitory action of nitric oxide and peroxynitrite on mitochondrial electron transport. Arch Biochem Biophys 328: 309-316.
-
(1996)
Arch. Biochem. Biophys.
, vol.328
, pp. 309-316
-
-
Cassina, A.1
Radi, R.2
-
7
-
-
0037005823
-
Inhibition of cytochrome c oxidase activity in rat cerebral cortex and human skeletal muscle by D-2-hydroxyglutaric acid in vitro
-
da Silva CG, Ribeiro CA, Leipnitz G, et al (2002) Inhibition of cytochrome c oxidase activity in rat cerebral cortex and human skeletal muscle by D-2-hydroxyglutaric acid in vitro. Biochim Biophys Acta 1586: 81-91.
-
(2002)
Biochim. Biophys. Acta
, vol.1586
, pp. 81-91
-
-
da Silva, C.G.1
Ribeiro, C.A.2
Leipnitz, G.3
-
9
-
-
0032030854
-
Abnormal properties of creatine kinase in Alzheimer's disease brain: Correlation of reduced enzyme activity and active site photolabeling with aberrant cytosol-membrane partitioning
-
David S, Shoemaker M, Haley BE (1998) Abnormal properties of creatine kinase in Alzheimer's disease brain: Correlation of reduced enzyme activity and active site photolabeling with aberrant cytosol-membrane partitioning. Brain Res Mol Brain Res 54: 276-287.
-
(1998)
Brain Res. Mol. Brain Res.
, vol.54
, pp. 276-287
-
-
David, S.1
Shoemaker, M.2
Haley, B.E.3
-
10
-
-
0028893505
-
Effect of organic acids on in vitro glucose oxidation by cerebral cortex of young rats
-
Dutra-Filho CS, Wajner M, Gassen E, et al (1995) Effect of organic acids on in vitro glucose oxidation by cerebral cortex of young rats. Med Sci Res 23: 25-26.
-
(1995)
Med. Sci. Res.
, vol.23
, pp. 25-26
-
-
Dutra-Filho, C.S.1
Wajner, M.2
Gassen, E.3
-
11
-
-
0037561232
-
Peroxynitrite and mitochondrial dysfunction in the pathogenesis of Parkinson's disease
-
Ebadi M, Sharma SK (2003) Peroxynitrite and mitochondrial dysfunction in the pathogenesis of Parkinson's disease. Antioxid Redox Signal 5: 319-335.
-
(2003)
Antioxid. Redox. Signal
, vol.5
, pp. 319-335
-
-
Ebadi, M.1
Sharma, S.K.2
-
13
-
-
0022350446
-
Differential investigation of the capacity of succinate oxidation in human skeletal muscle
-
Fischer JC, Ruitenbeek W, Berden JA, et al (1985) Differential investigation of the capacity of succinate oxidation in human skeletal muscle. Clin Chim Acta 153: 23-36.
-
(1985)
Clin. Chim. Acta
, vol.153
, pp. 23-36
-
-
Fischer, J.C.1
Ruitenbeek, W.2
Berden, J.A.3
-
14
-
-
0034121032
-
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error of L-isoleucine metabolism
-
Gibson KM, Burlingame TG, Hogema B, et al (2000) 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error of L-isoleucine metabolism. Pediatr Res 47: 830-833.
-
(2000)
Pediatr. Res.
, vol.47
, pp. 830-833
-
-
Gibson, K.M.1
Burlingame, T.G.2
Hogema, B.3
-
15
-
-
50549160763
-
A method for the estimation of serum creatine kinase and its use in comparing creatine kinase and aldolase activity in normal and pathological sera
-
Hughes BP (1962) A method for the estimation of serum creatine kinase and its use in comparing creatine kinase and aldolase activity in normal and pathological sera. Clin Chim Acta 7: 597-603.
-
(1962)
Clin. Chim. Acta
, vol.7
, pp. 597-603
-
-
Hughes, B.P.1
-
16
-
-
0141541807
-
A third isoform of cytochrome c subunit VIII is present in mammals
-
Hüttemann M, Schmidt TR, Grossman LI (2003) A third isoform of cytochrome c subunit VIII is present in mammals. Gene 312: 95-102.
-
(2003)
Gene
, vol.312
, pp. 95-102
-
-
Hüttemann, M.1
Schmidt, T.R.2
Grossman, L.I.3
-
17
-
-
0032496422
-
Rapid and irreversible inhibition of creatine kinase by peroxynitrite
-
Konorev EA, Hogg N, Kalyanaraman B (1998) Rapid and irreversible inhibition of creatine kinase by peroxynitrite. FEBS Lett 427: 171-174.
-
(1998)
FEBS Lett.
, vol.427
, pp. 171-174
-
-
Konorev, E.A.1
Hogg, N.2
Kalyanaraman, B.3
-
18
-
-
0037252466
-
Different metabolic properties of mitochondrial oxidative phosphorylation in different cell types - Important implications for mitochondrial cytopathies
-
Kunz WS (2003) Different metabolic properties of mitochondrial oxidative phosphorylation in different cell types - important implications for mitochondrial cytopathies. Exp Physiol 88: 149-154.
-
(2003)
Exp. Physiol.
, vol.88
, pp. 149-154
-
-
Kunz, W.S.1
-
20
-
-
0019445484
-
Regional activities of metabolic enzymes and glutamate decarboxylase in human brain
-
Maker HS, Weiss C, Weissbarth S, Silides DJ, Whetsell W (1981) Regional activities of metabolic enzymes and glutamate decarboxylase in human brain. Ann Neurol 10: 377-383.
-
(1981)
Ann. Neurol.
, vol.10
, pp. 377-383
-
-
Maker, H.S.1
Weiss, C.2
Weissbarth, S.3
Silides, D.J.4
Whetsell, W.5
-
21
-
-
0001666124
-
Inborn errors of ketone body metabolism
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
-
Mitchell GA, Fukao T (2001) Inborn errors of ketone body metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2328-2356.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2328-2356
-
-
Mitchell, G.A.1
Fukao, T.2
-
22
-
-
12244294340
-
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase: Purification of the enzyme, cloning of the cDNA and resolution of the molecular basis of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
-
[Abstract 120-O]
-
Ofman R, Freenstra M, Ruiter JPN, Zschocke J, Wanders RJA (2001) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase: Purification of the enzyme, cloning of the cDNA and resolution of the molecular basis of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 24 (supplement 1): 60 [Abstract 120-O].
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, Issue.SUPPL. 1
, pp. 60
-
-
Ofman, R.1
Freenstra, M.2
Ruiter, J.P.N.3
Zschocke, J.4
Wanders, R.J.A.5
-
23
-
-
0015788448
-
Carrier-mediated blood-brain barrier transport of short-chain monocarboxylic organic acids
-
Oldendorf WH (1973) Carrier-mediated blood-brain barrier transport of short-chain monocarboxylic organic acids. Am J Physiol 224: 1450-1453.
-
(1973)
Am. J. Physiol.
, vol.224
, pp. 1450-1453
-
-
Oldendorf, W.H.1
-
24
-
-
0036822461
-
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man
-
Olpin SE, Pollitt RJ, McMenamin J, et al (2002) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man. J Inherit Metab Dis 25: 477-482.
-
(2002)
J. Inherit. Metab. Dis.
, vol.25
, pp. 477-482
-
-
Olpin, S.E.1
Pollitt, R.J.2
McMenamin, J.3
-
25
-
-
0036244508
-
Nitric oxide and peroxynitrite interactions with mitochondria
-
Radi R, Cassina A, Hodara R (2002) Nitric oxide and peroxynitrite interactions with mitochondria. Biol Chem 383: 401-409.
-
(2002)
Biol. Chem.
, vol.383
, pp. 401-409
-
-
Radi, R.1
Cassina, A.2
Hodara, R.3
-
26
-
-
0034523137
-
Opposite transitions of chick brain catalytically active cytosolic creatine kinase isoenzymes during development
-
Ramirez O, Jiménez E (2000) Opposite transitions of chick brain catalytically active cytosolic creatine kinase isoenzymes during development. Int J Dev Neurosci 18: 815-823.
-
(2000)
Int. J. Dev. Neurosci.
, vol.18
, pp. 815-823
-
-
Ramirez, O.1
Jiménez, E.2
-
27
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
Rustin P, Chretien D, Bourgeron T, et al (1994) Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 228: 35-51.
-
(1994)
Clin. Chim. Acta
, vol.228
, pp. 35-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
-
28
-
-
0021860981
-
Creatine kinase of rat heart mitochondria. The demonstration off unctional coupling to oxidative phosphorylation in an inner membrane-matrix preparation
-
Saks VA, Kuznetsov AV, Kuprianov VV, Miceli MV, Jacobus WE (1985) Creatine kinase of rat heart mitochondria. The demonstration off unctional coupling to oxidative phosphorylation in an inner membrane-matrix preparation. J Biol Chem 260: 7757-7764.
-
(1985)
J. Biol. Chem.
, vol.260
, pp. 7757-7764
-
-
Saks, V.A.1
Kuznetsov, A.V.2
Kuprianov, V.V.3
Miceli, M.V.4
Jacobus, W.E.5
-
29
-
-
0025254401
-
Mitochondrial complex I deficiency in Parkinson's disease
-
Schapira AH, Cooper JM, Dexter D, Clark JB, Jenner P, Marsden CD (1990) Mitochondrial complex I deficiency in Parkinson's disease. J Neurochem 54: 823-827.
-
(1990)
J. Neurochem.
, vol.54
, pp. 823-827
-
-
Schapira, A.H.1
Cooper, J.M.2
Dexter, D.3
Clark, J.B.4
Jenner, P.5
Marsden, C.D.6
-
30
-
-
0027399094
-
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: An inborn error of isoleucine and ketone body metabolism
-
Søvik O (1993) Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: An inborn error of isoleucine and ketone body metabolism. J Inherit Metab Dis 16: 46-54.
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 46-54
-
-
Søvik, O.1
-
31
-
-
0032479147
-
Mitochondrial creatine kinase is a prime target of peroxynitrite-induced modification and inactivation
-
Stachowiak O, Dolder M, Wallimann T, Richter C (1998) Mitochondrial creatine kinase is a prime target of peroxynitrite-induced modification and inactivation. J Biol Chem 273: 16694-16699.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 16694-16699
-
-
Stachowiak, O.1
Dolder, M.2
Wallimann, T.3
Richter, C.4
-
32
-
-
0038389582
-
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
-
Sutton VR, O'Brien WE, Clark GD, Kim J, Wanders JA (2003) 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 26: 69-71.
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 69-71
-
-
Sutton, V.R.1
O'Brien, W.E.2
Clark, G.D.3
Kim, J.4
Wanders, J.A.5
-
33
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
Wallace DC (1999) Mitochondrial diseases in man and mouse. Science 283: 1482-1487.
-
(1999)
Science
, vol.283
, pp. 1482-1487
-
-
Wallace, D.C.1
-
35
-
-
0030565445
-
Inhibition of creatine kinase by S-nitrosoglutathione
-
Wolosker H, Panizzutti R, Englender S (1996) Inhibition of creatine kinase by S-nitrosoglutathione. FEBS Lett 392: 274-276.
-
(1996)
FEBS Lett.
, vol.392
, pp. 274-276
-
-
Wolosker, H.1
Panizzutti, R.2
Englender, S.3
-
36
-
-
0033935979
-
Creatine and creatinine metabolism
-
Wyss M, Kaddurah-Daouk R (2000) Creatine and creatinine metabolism. Physiol Rev 80: 1107-1213.
-
(2000)
Physiol. Rev.
, vol.80
, pp. 1107-1213
-
-
Wyss, M.1
Kaddurah-Daouk, R.2
-
37
-
-
0033667891
-
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: A novel inborn error of branched-chain fatty acid and isoleucine metabolism
-
Zschocke J, Ruiter JPN, Brand J, et al (2000) Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: A novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr Res 48: 852-855.
-
(2000)
Pediatr. Res.
, vol.48
, pp. 852-855
-
-
Zschocke, J.1
Ruiter, J.P.N.2
Brand, J.3
|